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Research Article: Host susceptibility spectrum and diagnostic challenges in pediatric nontuberculous mycobacterial disease: a case series of five patients with literature review

Date Published: 2026-06-19

Abstract:
Pediatric nontuberculous mycobacterial (NTM) infections are frequently misdiagnosed due to their heterogeneous clinical presentations, which can mimic pulmonary tuberculosis, common respiratory diseases, or other infectious conditions depending on the site of involvement. This case series aimed to characterize the host susceptibility spectrum underlying pediatric NTM infection across both pulmonary and extrapulmonary sites, with emphasis on the diagnostic role of targeted next-generation sequencing (tNGS). We conducted a retrospective analysis of five pediatric patients with confirmed NTM infection diagnosed at Fujian Provincial Fuzhou Pulmonary Hospital between January and December 2025. Clinical characteristics, predisposing factors, therapeutic regimens, and clinical outcomes were systematically reviewed and discussed in the context of relevant literature. The cohort included 5 children aged 7 months to 12 years. Pathogenic species were Mycobacterium abscessus ( n =?4) and Mycobacterium paragordonae ( n =?1). Infection sites included the lungs ( n =?3), cervical lymph nodes ( n =?1), and parotid gland ( n =?1). Predisposing factors ranged from localized infection in immunocompetent children to congenital airway anomalies, DiGeorge syndrome, and cystic fibrosis with bronchiectasis. All patients improved after individualized multidrug therapy and were discharged. Pediatric NTM infection is associated with a broad spectrum of predisposing factors, including bronchiectasis, cystic fibrosis, congenital airway anomalies, and systemic immunodeficiency such as DiGeorge syndrome. tNGS demonstrated significant diagnostic value in identifying NTM species and should be considered when conventional methods are insufficient.

Introduction:
Nontuberculous mycobacteria (NTM) are ubiquitously distributed in natural water sources, soil, aerosols, and medical water systems ( 1 ). NTM infections are generally acquired through environmental exposure and were traditionally considered incapable of person-to-person transmission; however, recent whole-genome sequencing studies have suggested that Mycobacterium abscessus may undergo inter-human transmission in specific patient populations ( 2 , 3 ). Globally, both the incidence and detection rates of NTM…

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